Polymicrogyria and Schizencephaly
Gene: AHI1EnsemblGeneIds (GRCh38): ENSG00000135541
EnsemblGeneIds (GRCh37): ENSG00000135541
OMIM: 608894, Gene2Phenotype
AHI1 is in 20 panels
1 review
Lauren Akesson (Royal Melbourne Hospital)
CNS anomalies are described in Joubert syndrome including Joubert syndrome caused by variants in AHI1 (see OMIM report) including polymicrogyria, malformations of the corpus callosum, seizures, and spasticity.
A subset of individuals with Joubert syndrome have cortical malformations including polymicrogyria, heterotopias, dysplasia, pachygyria (Gene Reviews), although most studies describing these malformations were published prior to routine genotyping (for example, PMID 14981712) and it is therefore unknown whether these individuals had variants in AHI1. Individuals with Joubert syndrome due to variants in other genes have also been described with polymicrogyria (PMID 25920555).
Three individuals from two unrelated families with Joubert syndrome due to AHI1 variants had polymicrogyria, although one was described as “possible frontal polymicrogyria” (PMID 15467982)Created: 21 Apr 2020, 12:31 a.m. | Last Modified: 21 Apr 2020, 12:31 a.m.
Panel Version: 0.33
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 3, MIM# 608629
Publications
- PMID: 15467982
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Victorian Clinical Genetics Services
- Australian Genomics Health Alliance Brain Malformations Flagship
- Phenotypes
-
- Joubert syndrome 3, MIM# 608629
- OMIM
- 608894
- Clinvar variants
- Variants in AHI1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Joubert syndrome and other neurological ciliopathies
- Ciliopathies
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Prepair 1000+
- BabyScreen+ newborn screening
- Renal Ciliopathies and Nephronophthisis
- Intellectual disability syndromic and non-syndromic
- Retinitis pigmentosa_Autosomal Recessive/X-linked
- Regression
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Syndromic Retinopathy
- Prepair 500+
- Polymicrogyria and Schizencephaly
- Callosome
- Ataxia - paediatric
- Autism
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ahi1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: AHI1 were changed from to Joubert syndrome 3, MIM# 608629
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: AHI1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: AHI1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ahi1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: AHI1 was added gene: AHI1 was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: AHI1 was set to Unknown